Canonical Allele Identifier: CA913090901

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799829_73799831del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572702_73572704del , CM000664.2:g.73572702_73572704del	GRCh38
NC_000002.11:g.73799829_73799831del , CM000664.1:g.73799829_73799831del	GRCh37
NC_000002.10:g.73653337_73653339del	NCBI36
NG_011690.1:g.191950_191952del , LRG_741:g.191950_191952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10444_10446del	ENSP00000507671.1:p.Gln3482del
ENST00000682801.1:c.10444_10446del	ENSP00000507862.1:p.Gln3482del
ENST00000682859.1:c.10444_10446del	ENSP00000508222.1:p.Gln3482del
ENST00000683791.1:c.3530_3532del
ENST00000684460.1:c.7725_7727del
ENST00000684548.1:c.10444_10446del	ENSP00000507421.1:p.Gln3482del
ENST00000684590.1:c.4891_4893del	ENSP00000507376.1:p.Gln1631del
ENST00000684656.1:c.7770_7772del
ENST00000613296.6:c.10825_10827del MANE Select	ENSP00000482968.1:p.Gln3609del
ENST00000651057.1:c.979_981del	ENSP00000498504.1:p.Gln327del
ENST00000651434.1:c.2181_2183del
ENST00000651750.1:c.213_215del
ENST00000652487.1:c.1922_1924del
ENST00000423048.5:c.4316_4318del	ENSP00000399833.1:n.4316_4318del
ENST00000484298.5:c.10699_10701del	ENSP00000478155.1:p.Gln3567del
ENST00000613296.4:c.10825_10827del	ENSP00000482968.1:p.Gln3609del
ENST00000614410.4:c.10825_10827del	ENSP00000479094.1:p.Gln3609del
ENST00000620466.4:n.4628_4630del
NM_015120.4:c.10828_10830del , LRG_741t1:c.10828_10830del	NP_055935.4:p.Gln3610del
NM_001378454.1:c.10825_10827del MANE Select	NP_001365383.1:p.Gln3609del